Gene: FARS2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease BEFREE FARS2 encodes mitochondrial phenylalanyl transfer ribonucleic acid (RNA) synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14. 31329004 2019
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 CausalMutation disease CLINVAR FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. 30177229 2018
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 Biomarker disease GENOMICS_ENGLAND New insights into the phenotype of FARS2 deficiency. 29126765 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease CLINVAR FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. 28043061 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease CLINVAR New insights into the phenotype of FARS2 deficiency. 29126765 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease CLINVAR Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 27095821 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease BEFREE The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. 27549011 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease BEFREE Recently, mutations in FARS2, which encodes for mitochondrial phenylalanyl-tRNA synthetase, have been implicated in autosomal recessive combined oxidative phosphorylation deficiency 14. 25851414 2015
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease CLINVAR Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. 24161539 2014
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GermlineCausalMutation disease ORPHANET Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease UNIPROT Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 GeneticVariation disease CLINVAR Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 CausalMutation disease CLINVAR Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.730 Biomarker disease CTD_human